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Ion channels and disease 

Ion channels and disease
Chapter:
Ion channels and disease
Author(s):

Frances Ashcroft

, and Paolo Tammaro

DOI:
10.1093/med/9780198746690.003.0032
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date: 02 March 2021

Ion channels are membrane proteins that act as gated pathways for the movement of ions across cell membranes. They are found in both surface and intracellular membranes and play essential roles in the physiology of all cell types. An ever-increasing number of human diseases are now known to be caused by defects in ion channel function. To understand how ion channel defects give rise to disease, it is helpful to understand how the ion channel proteins work. This chapter therefore considers what is known of ion channel structure, explains the properties of the single ion channel, and shows how single-channel currents give rise to action potentials and synaptic potentials.

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